Milestones of Precision Medicine: An Innovative, Multidisciplinary Overview

[1]  M. Carlén,et al.  Spatial Transcriptomics: Molecular Maps of the Mammalian Brain. , 2021, Annual review of neuroscience.

[2]  W. Chung,et al.  Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials. , 2020, The lancet. Diabetes & endocrinology.

[3]  D. Isenberg,et al.  Anti-IFNαR Mabs for the treatment of systemic lupus erythematosus , 2020, Expert opinion on biological therapy.

[4]  W. Fokkens,et al.  Biomarkers for diagnosis and prediction of therapy responses in allergic diseases and asthma , 2020, Allergy.

[5]  J. Kassubek,et al.  Longitudinal Serum Neurofilament Levels of Multiple Sclerosis Patients Before and After Treatment with First-Line Immunomodulatory Therapies , 2020, Biomedicines.

[6]  R. Serra,et al.  Contribution of Predictive and Prognostic Biomarkers to Clinical Research on Chronic Kidney Disease , 2020, International journal of molecular sciences.

[7]  T. Chan,et al.  The FDA approval of pembrolizumab for adult and pediatric patients with tumor mutational burden (TMB) ≥10: a decision centered on empowering patients and their physicians. , 2020, Annals of oncology : official journal of the European Society for Medical Oncology.

[8]  Mark Robson,et al.  Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers: A report from the ESMO Precision Medicine Working Group. , 2020, Annals of oncology : official journal of the European Society for Medical Oncology.

[9]  Christopher J. Sevinsky,et al.  Spatial domain analysis predicts risk of colorectal cancer recurrence and infers associated tumor microenvironment networks , 2020, Nature Communications.

[10]  J. Yanovski,et al.  Effect of setmelanotide, a melanocortin‐4 receptor agonist, on obesity in Bardet‐Biedl syndrome , 2020, Diabetes, obesity & metabolism.

[11]  P. Laurent-Puig,et al.  Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 plan , 2020, ESMO Open.

[12]  D. Planchard,et al.  Outcomes in oncogenic-addicted advanced NSCLC patients with actionable mutations identified by liquid biopsy genomic profiling using a tagged amplicon-based NGS assay , 2020, PloS one.

[13]  P. Gibbs,et al.  Pembrolizumab versus chemotherapy for microsatellite instability-high/mismatch repair deficient metastatic colorectal cancer: The phase 3 KEYNOTE-177 Study. , 2020, Journal of Clinical Oncology.

[14]  O. Witte,et al.  The Chitinases as Biomarkers for Amyotrophic Lateral Sclerosis: Signals From the CNS and Beyond , 2020, Frontiers in Neurology.

[15]  J. Bernstein,et al.  Resolving Clinical Phenotypes into Endotypes in Allergy: Molecular and Omics Approaches , 2020, Clinical Reviews in Allergy & Immunology.

[16]  C. Dive,et al.  Liquid Biopsy-Based Biomarkers of Treatment Response and Resistance. , 2020, Cancer cell.

[17]  B. Tops,et al.  Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material , 2020, BMC Cancer.

[18]  J F Hess,et al.  Library preparation for next generation sequencing: A review of automation strategies. , 2020, Biotechnology advances.

[19]  J. Bousquet,et al.  A WAO — ARIA — GA2LEN consensus document on molecular-based allergy diagnosis (PAMD@): Update 2020 , 2020, The World Allergy Organization journal.

[20]  J. Kalish,et al.  Diagnosis and Management of Beckwith-Wiedemann Syndrome , 2020, Frontiers in Pediatrics.

[21]  P. Backeljauw.  Therapy with recombinant human IGF-1 for children with primary insulin-like growth factor-I deficiency. , 2020, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

[22]  Jihua Huang,et al.  Predictive serum markers for unexplained infertility in child‐bearing aged women , 2020, American journal of reproductive immunology.

[23]  Jeffrey W. Clark,et al.  Antitumor Activity of Crizotinib in Lung Cancers Harboring a MET Exon 14 Alteration , 2019, Nature Medicine.

[24]  W. Brück,et al.  Molecular biomarkers in multiple sclerosis , 2019, Journal of Neuroinflammation.

[25]  Heqing Shen,et al.  Seminal plasma metabolites mediate the associations of multiple environmental pollutants with semen quality in Chinese men. , 2019, Environment international.

[26]  L. Duan,et al.  Candidate single nucleotide polymorphisms of irritable bowel syndrome: a systemic review and meta-analysis , 2019, BMC Gastroenterology.

[27]  K. Musunuru,et al.  From Hypertrophy to Heart Failure: What Is New in Genetic Cardiomyopathies , 2019, Current Heart Failure Reports.

[28]  Harpreet Wasan,et al.  Encorafenib, Binimetinib, and Cetuximab in BRAF V600E-Mutated Colorectal Cancer. , 2019, The New England journal of medicine.

[29]  F. Bissonnette,et al.  Identification of new biomarkers of human endometrial receptivity and maternal-fetal dialogue , 2019, Fertility and Sterility.

[30]  D. Newby,et al.  High-Sensitivity Troponin and the Application of Risk Stratification Thresholds in Patients With Suspected Acute Coronary Syndrome , 2019, Circulation.

[31]  M. Caulfield,et al.  Genomic medicine: time for health-care transformation , 2019, The Lancet.

[32]  Heqing Shen,et al.  Seminal plasma metabolome in relation to semen quality and urinary phthalate metabolites among Chinese adult men. , 2019, Environment international.

[33]  R. Torra,et al.  New therapeutic options for Alport syndrome. , 2019, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[34]  R. Weiskirchen,et al.  Current Status in Testing for Nonalcoholic Fatty Liver Disease (NAFLD) and Nonalcoholic Steatohepatitis (NASH) , 2019, Cells.

[35]  K. Birkenkamp-Demtröder,et al.  Re: Monitoring Treatment Response and Metastatic Relapse in Advanced Bladder Cancer by Liquid Biopsy Analysis. , 2019, The Journal of urology.

[36]  B. Arneth.  Neuronal Antibodies and Associated Syndromes , 2019, Autoimmune diseases.

[37]  A. Shahverdi,et al.  Stress Hormone and Oxidative Stress Biomarkers Link Obesity and Diabetes with Reduced Fertility Potential , 2019, Cell journal.

[38]  Zhengcan Zhou,et al.  Biomarkers in heart failure: the past, current and future , 2019, Heart Failure Reviews.

[39]  A. Gabrielsen,et al.  hsCRP Level and the Risk of Death or Recurrent Cardiovascular Events in Patients With Myocardial Infarction: a Healthcare‐Based Study , 2019, Journal of the American Heart Association.

[40]  Matthew W. Martinez,et al.  Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association. , 2019, Circulation. Genomic and precision medicine.

[41]  H. Rugo,et al.  Alpelisib for PIK3CA‐Mutated, Hormone Receptor–Positive Advanced Breast Cancer , 2019, The New England journal of medicine.

[42]  Akihiko Yoshida,et al.  Feasibility and utility of a panel testing for 114 cancer‐associated genes in a clinical setting: A hospital‐based study , 2019, Cancer science.

[43]  V. Konda,et al.  Aberrant p53 Immunostaining in Barrett’s Esophagus Predicts Neoplastic Progression: Systematic Review and Meta-Analyses , 2019, Digestive Diseases and Sciences.

[44]  A. Ortiz.  Proteomics for Clinical Assessment of Kidney Disease , 2019, Proteomics. Clinical applications.

[45]  P. Keegan,et al.  FDA Approval Summary: Pembrolizumab for the Treatment of Microsatellite Instability-High Solid Tumors , 2019, Clinical Cancer Research.

[46]  D. Melzer,et al.  Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank , 2019, British Medical Journal.

[47]  Chunhua Weng,et al.  Diagnostic Utility of Exome Sequencing for Kidney Disease , 2019, The New England journal of medicine.

[48]  W. Shimizu,et al.  Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome , 2018, Japanese Journal of Electrocardiology.

[49]  J. Bernstein,et al.  Leveraging Multilayered “Omics” Data for Atopic Dermatitis: A Road Map to Precision Medicine , 2018, Front. Immunol..

[50]  P. Elliott,et al.  Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations. , 2018, Journal of the American College of Cardiology.

[51]  N. Normanno,et al.  The liquid biopsy in the management of colorectal cancer patients: Current applications and future scenarios. , 2018, Cancer treatment reviews.

[52]  H. Mischak,et al.  Novel Urinary Biomarkers For Improved Prediction Of Progressive eGFR Loss In Early Chronic Kidney Disease Stages And In High Risk Individuals Without Chronic Kidney Disease , 2018, Scientific Reports.

[53]  Ludwig Kappos,et al.  Neurofilaments as biomarkers in neurological disorders , 2018, Nature Reviews Neurology.

[54]  A. Walley,et al.  Genetics of Severe Obesity , 2018, Current Diabetes Reports.

[55]  L. Pérez-Jurado,et al.  Genetic causes of proportionate short stature. , 2018, Best practice & research. Clinical endocrinology & metabolism.

[56]  Ting Wang,et al.  MicroRNAs as potential biomarkers for diagnosis, therapy and prognosis of gastric cancer , 2018, OncoTargets and therapy.

[57]  Nicholas D. Camarda,et al.  Detection of Mutations in Barrett's Esophagus Before Progression to High-Grade Dysplasia or Adenocarcinoma. , 2018, Gastroenterology.

[58]  R. Moss,et al.  Cystic fibrosis transmembrane conductance regulator modulators: precision medicine in cystic fibrosis , 2018, Current opinion in pediatrics.

[59]  C. Eng,et al.  Fabry disease revisited: Management and treatment recommendations for adult patients. , 2018, Molecular genetics and metabolism.

[60]  Fabrice Jotterand,et al.  Artificial intelligence, physiological genomics, and precision medicine. , 2018, Physiological genomics.

[61]  P. Sterk,et al.  Biomarkers and asthma management: analysis and potential applications , 2018, Current opinion in allergy and clinical immunology.

[62]  S. Solomon,et al.  Natriuretic Peptides as Biomarkers of Treatment Response in Clinical Trials of Heart Failure. , 2018, JACC. Heart failure.

[63]  R. Shrestha,et al.  Application of next‐generation sequencing to improve cancer management: A review of the clinical effectiveness and cost‐effectiveness , 2018, Clinical genetics.

[64]  W. Chey,et al.  Increased Prevalence of Rare Sucrase-isomaltase (SI) Pathogenic Variants in Irritable Bowel Syndrome Patients , 2018, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

[65]  Funda Meric-Bernstam,et al.  Efficacy of Larotrectinib in TRK Fusion–Positive Cancers in Adults and Children , 2018, The New England journal of medicine.

[66]  S. Munné,et al.  Development of a new comprehensive and reliable endometrial receptivity map (ER Map/ER Grade) based on RT-qPCR gene expression analysis , 2018, Human reproduction.

[67]  Ying Cheng,et al.  Osimertinib in Untreated EGFR‐Mutated Advanced Non–Small‐Cell Lung Cancer , 2018, The New England journal of medicine.

[68]  S. Novello,et al.  Precision medicine in ALK rearranged NSCLC: A rapidly evolving scenario. , 2017, Critical reviews in oncology/hematology.

[69]  M. Bilal,et al.  Developing a deeper insight into reproductive biomarkers , 2017, Clinical and experimental reproductive medicine.

[70]  E. Álava,et al.  Proposal for the creation of a national strategy for precision medicine in cancer: a position statement of SEOM, SEAP, and SEFH , 2017, Clinical and Translational Oncology.

[71]  J. Molinuevo,et al.  CSF sAPPβ, YKL-40, and neurofilament light in frontotemporal lobar degeneration , 2017, Neurology.

[72]  U. Vogel,et al.  Systematic review and meta-analysis: pharmacogenetics of anti-TNF treatment response in rheumatoid arthritis , 2017, The Pharmacogenomics Journal.

[73]  J. Clarimón,et al.  YKL-40 (Chitinase 3-like I) is expressed in a subset of astrocytes in Alzheimer’s disease and other tauopathies , 2017, Journal of Neuroinflammation.

[74]  Toshihiro Tanaka,et al.  Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry , 2017, Circulation.

[75]  Ludwig Kappos,et al.  Serum Neurofilament light: A biomarker of neuronal damage in multiple sclerosis , 2017, Annals of neurology.

[76]  L. Boardman,et al.  Individualized Medicine in Gastroenterology and Hepatology , 2017, Mayo Clinic proceedings.

[77]  M. Sánchez-Niño,et al.  Clinical proteomics in kidney disease as an exponential technology: heading towards the disruptive phase , 2017, Clinical kidney journal.

[78]  David Cameron,et al.  11 years' follow-up of trastuzumab after adjuvant chemotherapy in HER2-positive early breast cancer: final analysis of the HERceptin Adjuvant (HERA) trial , 2017, The Lancet.

[79]  N. De Stefano,et al.  Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects , 2017, BMC Medicine.

[80]  Peggy L. Peissig,et al.  Identification of Four Novel Loci in Asthma in European American and African American Populations , 2017, American journal of respiratory and critical care medicine.

[81]  Howard L McLeod,et al.  Strategies for integrating personalized medicine into healthcare practice. , 2017, Personalized medicine.

[82]  S. Brown.  Molecular mechanisms in atopic eczema: insights gained from genetic studies , 2017, The Journal of pathology.

[83]  Rosamaria Pinto,et al.  Next-generation sequencing: advances and applications in cancer diagnosis , 2016, OncoTargets and therapy.

[84]  M. Camilleri,et al.  Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome , 2016, Gut.

[85]  Jennifer Abbasí.  Getting Pharmacogenomics Into the Clinic. , 2016, JAMA.

[86]  Y. Shentu,et al.  Pembrolizumab versus Chemotherapy for PD-L1-Positive Non-Small-Cell Lung Cancer. , 2016, The New England journal of medicine.

[87]  C. Ronco,et al.  Predictors of rapid disease progression in autosomal dominant polycystic kidney disease. , 2016, Minerva medica.

[88]  E. Plimack,et al.  TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy , 2016, Oncotarget.

[89]  R. Chakraborty,et al.  Resolving the etiology of atopic disorders by using genetic analysis of racial ancestry. , 2016, The Journal of allergy and clinical immunology.

[90]  Giovanni De Grandis,et al.  Conceptual and terminological confusion around personalised medicine: a coping strategy , 2016, BMC medical ethics.

[91]  T. Casale,et al.  Precision medicine in patients with allergic diseases: Airway diseases and atopic dermatitis-PRACTALL document of the European Academy of Allergy and Clinical Immunology and the American Academy of Allergy, Asthma & Immunology. , 2016, The Journal of allergy and clinical immunology.

[92]  A. Venkatesan,et al.  A clinical approach to diagnosis of autoimmune encephalitis , 2016, The Lancet Neurology.

[93]  B. K. Suri,et al.  Functional variants of 17q12-21 are associated with allergic asthma but not allergic rhinitis. , 2016, The Journal of allergy and clinical immunology.

[94]  F. Ubaldi,et al.  The use of ovarian reserve markers in IVF clinical practice: a national consensus , 2016, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

[95]  D. Tincello,et al.  Role of serum biomarkers in the prediction of outcome in women with threatened miscarriage: a systematic review and diagnostic accuracy meta-analysis. , 2015, Human reproduction update.

[96]  A. Traboulsee,et al.  International consensus diagnostic criteria for neuromyelitis optica spectrum disorders , 2015, Neurology.

[97]  G. Sledge,et al.  Targeted Therapy for Cancer in the Genomic Era. , 2015, Cancer journal.

[98]  À. Rovira,et al.  Chitinase 3-like 1: prognostic biomarker in clinically isolated syndromes. , 2015, Brain : a journal of neurology.

[99]  C. Lightdale,et al.  The role of molecular analysis in the diagnosis and surveillance of pancreatic cystic neoplasms. , 2015, JOP : Journal of the pancreas.

[100]  M. Amaral,et al.  Novel personalized therapies for cystic fibrosis: treating the basic defect in all patients , 2015, Journal of internal medicine.

[101]  M. Taron,et al.  Pharmacogenomic biomarkers for personalized cancer treatment , 2015, Journal of internal medicine.

[102]  Jeffrey W. Clark,et al.  Crizotinib in ROS1-rearranged non-small-cell lung cancer. , 2014, The New England journal of medicine.

[103]  V. Cardona,et al.  Component resolved diagnosis: when should it be used? , 2014, Clinical and Translational Allergy.

[104]  M. Piccart,et al.  Delivering precision medicine in oncology today and in future-the promise and challenges of personalised cancer medicine: a position paper by the European Society for Medical Oncology (ESMO). , 2014 .

[105]  A. Ortiz,et al.  Urine 2DE proteome analysis in healthy condition and kidney disease , 2014, Electrophoresis.

[106]  D. Maahs,et al.  Multicentre prospective validation of a urinary peptidome-based classifier for the diagnosis of type 2 diabetic nephropathy. , 2014, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[107]  R. Balice-Gordon,et al.  Antibody titres at diagnosis and during follow-up of anti-NMDA receptor encephalitis: a retrospective study , 2014, The Lancet Neurology.

[108]  T. Sipponen.  Diagnostics and Prognostics of Inflammatory Bowel Disease with Fecal Neutrophil-Derived Biomarkers Calprotectin and Lactoferrin , 2013, Digestive Diseases.

[109]  Alex M. Fichtenholtz,et al.  Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing , 2013, Nature Biotechnology.

[110]  J. Tabernero,et al.  Panitumumab-FOLFOX4 treatment and RAS mutations in colorectal cancer. , 2013, The New England journal of medicine.

[111]  Nancy R. Downing,et al.  A Closer Look at the Recommended Criteria for Disclosing Genetic Results: Perspectives of Medical Genetic Specialists, Genomic Researchers, and Institutional Review Board Chairs , 2013, Journal of Genetic Counseling.

[112]  M. Hecker,et al.  Molecular Biomarkers in Multiple Sclerosis , 2013 .

[113]  Dan M. Roden,et al.  Implementing genomic medicine in the clinic: the future is here , 2013, Genetics in Medicine.

[114]  L. Pérez-Jurado,et al.  A Novel Melanocortin-4 Receptor Mutation MC4R-P272L Associated with Severe Obesity Has Increased Propensity To Be Ubiquitinated in the ER in the Face of Correct Folding , 2012, PloS one.

[115]  L. Simmons,et al.  Personalized Health Care as a Pathway for the Adoption of Genomic Medicine , 2012, Journal of personalized medicine.

[116]  C. Vindigni,et al.  HLA-DQ typing in the diagnostic algorithm of celiac disease. , 2012, Revista espanola de enfermedades digestivas : organo oficial de la Sociedad Espanola de Patologia Digestiva.

[117]  P. Jirge.  Ovarian reserve tests , 2011, Journal of human reproductive sciences.

[118]  Ryan D. Hernandez,et al.  Meta-analysis of Genome-wide Association Studies of Asthma In Ethnically Diverse North American Populations , 2011, Nature Genetics.

[119]  Florence Demenais,et al.  A large-scale, consortium-based genomewide association study of asthma. , 2010, The New England journal of medicine.

[120]  Yoon-Koo Kang,et al.  Trastuzumab in combination with chemotherapy versus chemotherapy alone for treatment of HER2-positive advanced gastric or gastro-oesophageal junction cancer (ToGA): a phase 3, open-label, randomised controlled trial , 2010, The Lancet.

[121]  J. Aarseth,et al.  Onconeural antibodies in sera from patients with various types of tumours , 2009, Cancer Immunology, Immunotherapy.

[122]  M. Petticrew,et al.  Housing and health , 2007, BMJ : British Medical Journal.

[123]  L. Tavazzi,et al.  Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects , 2006, European journal of heart failure.

[124]  C. Vogel,et al.  Evaluation of clinical outcomes according to HER2 detection by fluorescence in situ hybridization in women with metastatic breast cancer treated with trastuzumab. , 2005, Clinical breast cancer.

[125]  S. Rantapää-Dahlqvist.  Diagnostic and prognostic significance of autoantibodies in early rheumatoid arthritis , 2005, Scandinavian journal of rheumatology.

[126]  J. Seidman,et al.  Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. , 1995, The New England journal of medicine.

[127]  F. Palau.  Pediatric genomics and precision medicine in childhood , 2020 .

[128]  D. Plant,et al.  Real World Data: special section Adding value to real-world data: the role of biomarkers , 2019 .

[129]  H. Matsumoto.  Roles of Periostin in Asthma. , 2019, Advances in experimental medicine and biology.

[130]  Z. Rosenwaks,et al.  Introduction: Cancer biomarkers and fertility. , 2018, Fertility and sterility.

[131]  P. Fischer-Posovszky,et al.  Biologically inactive leptin and early-onset extreme obesity. , 2015, The New England journal of medicine.

[132]  L. Staudt,et al.  National Cancer Institute's Precision Medicine Initiatives for the new National Clinical Trials Network. , 2014, American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting.

[133]  C. Simón,et al.  A genomic diagnostic tool for human endometrial receptivity based on the transcriptomic signature. , 2011, Fertility and sterility.